Limb-girdle muscular dystrophy type 2D (LGMD-2D) is caused by autosomal recessive defects in the
alpha-sarcoglycan gene located on chromosome 17q21. In this study, we present a child with
alpha-sarcoglycanopathy and describe a novel deletion in the
alpha-sarcoglycan gene. A 5-year-old boy had a very high serum
creatinine phosphokinase level, which was determined incidentally, and a negative molecular test for the
dystrophin gene. Muscle biopsy showed dystrophic features. Immunohistochemistry showed that there was diminished expression of alpha- and gamma-
sarcoglycans.
DNA analysis revealed a novel 7 bp homozygous deletion in exon 3 of the
alpha-sarcoglycan gene. His parents were consanguineous heterozygous carriers of the same deletion. We believe this is the first confirmed case of primary
alpha-sarcoglycanopathy with a novel deletion in Turkey. In addition, this study demonstrated that both muscle biopsy and
DNA analysis remain important methods for the differential diagnosis of
muscular dystrophies because dystrophinopathies and
sarcoglycanopathies are so similar.